Clinical trials: Brain Diseases, Metabolic, Inborn
HCM - Hypertrophic Cardiomyopathy, Anderson Fabry Disease
Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes
This observational study aims to evaluate myocardial perfusion abnormalities using quantitative and qualitative cardiac magnetic resonance (CMR) perfusion imaging in patients with hypertrophic cardiomyopathy (HCM) phenotypes…
- Conditions
- HCM - Hypertrophic Cardiomyopathy, Anderson Fabry Disease, Cardiac Magnetic Resonance Imaging, Amyloid Cardiomyopathy
- Trial name
- MyoPerf-HCM (NCT07382128)
- Where
- Italy
- Volunteers
- 250 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fabry Disease
Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease
The objective was to determine the effects of a single dose of migalastat hydrochloride (HCl) (migalastat) 150 and 450 milligrams (mg) on the safety and plasma pharmacokinetics (PK) of agalsidase and the effects of agalsidase on…
- Trial name
- NCT01196871
- Testing
- Migalastat HCl, Agalsidase Beta, Agalsidase Alfa
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 20 people
- Sponsor
- Amicus Therapeutics
Niemann-Pick Disease, Type C
Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
A prospective, randomized, double-blind, placebo controlled therapeutic study in participants with confirmed diagnosis of Niemann-Pick disease type C (NPC).
- Trial name
- NCT02612129
- Testing
- arimoclomol
- Where
- 14 sites in United States, Denmark and 7 more
- Volunteers
- 50 people
- Sponsor
- ZevraDenmark
Wilson Disease
A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease
The assumption is that in some of the carriers, the increase in enzymes reflects tissue damage due to excess copper. The reduction of the amount of copper absorbed will decrease excess copper in the liver, which will result in a…
- Trial name
- NCT03659331
- Testing
- Zinc
- Volunteers
- 50 people
- Sponsor
- Prof. Elon Pras
Wilson's Disease and COVID-19
Impact of the Lockdown Due to the COVID Pandemic in French Wilson's Disease Patients
Wilson's disease is a rare genetic disorder that causes copper to build up in the body. This overload is initially localized in the liver and the brain, but can spread throughout the body and cause systemic damage if copper…
- Trial name
- WILL-Ecco (NCT05004701)
- Where
- France
- Volunteers
- 120 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Hypotonia-Cystinuria Syndrome, Muscle Hypotonia
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency
- Trial name
- PHD (NCT02263781)
- Testing
- Blood draw, muscle biopsy
- Where
- Belgium
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Friedreich Ataxia
Friedreich Ataxia Nerve Ultrasund
"Friedreich ataxia is the most common inherited autosomal recessive ataxia. It is caused by a GAA repeat expansion in the frataxin gene on chromosome 9q21.11.
- Trial name
- FAUST (NCT07508631)
- Testing
- Nerve ultrasound - routine exam
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Wet Age-related Macular Degeneration
Comparing Efficacy of 8-Week and 12-Week Faricimab Initial Follow-Up Treatment Intervals
This is a prospective, randomized study that compares 8-week and 12-week follow-up intervals after the 4 monthly injections in the loading phase.
- Trial name
- NCT06875245
- Testing
- Faricimab Injection
- Where
- Czechia
- Volunteers
- 100 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Phenylketonuria (PKU) and Hyperphenylalaninemia
Phenylketonuria and Hyperphenylalaninemia Nutrition Study
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and…
- Trial name
- NCT01879995
- Where
- 2 sites in Switzerland
- Volunteers
- 30 people
- Sponsor
- University of Zurich
Wilson's Disease
A Phase I/II Study of VTX-801 in Adult Patients With Wilson's Disease
The objectives of this clinical trial are to assess, for up to 5 years, the safety, tolerability and pharmacological activity of a single ascending doses of VTX-801, a gene therapy, administered intravenously (IV) to adult…
- Trial name
- GATEWAY (NCT04537377)
- Testing
- VTX-801
- Where
- 10 sites in United States, Denmark and 2 more
- Volunteers
- 4 people
- Sponsor
- Vivet Therapeutics SAS
Gaucher Disease
Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00391625
- Testing
- GA-GCB
- Where
- 3 sites in Israel, Romania and 1 more
- Volunteers
- 10 people
- Sponsor
- Shire
Gaucher Disease
Genzyme Osteopenia/Osteoporosis Study
Gaucher disease is a most common genetic metabolic disease characterized by low platelet number, liver and spleen enlargement and various forms of bone diseases including low bone mineral density leading to brittle bones.
- Trial name
- NCT02785744
- Testing
- Gaucher disease DNA mutation analysis
- Where
- United States
- Volunteers
- 76 people
- Sponsor
- NYU Langone Health
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
Liver Disease in Urea Cycle Disorders
This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE.
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency
- Trial name
- NCT04612764
- Where
- 5 sites in United States
- Volunteers
- 62 people
- Sponsor
- Baylor College of Medicine
Wilson's Disease, Myocardial Dysfunction
Subclinical Myocardial Dysfunction in Children With Wilson's Disease
Wilson's disease (WD) is one of the most common metabolic liver diseases in older children. The most frequent clinical presentation is liver disease. However, Wilson's disease (WD) is a multisystem disorder.
- Conditions
- Wilson's Disease, Myocardial Dysfunction, Children, Wilson Disease
- Trial name
- NCT07765472
- Testing
- Echocardiography, Electrocardiography, N-terminal pro b- type natriuretic peptide
- Where
- 2 sites in Egypt
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Hebatullah Fawzy
Gaucher Disease, Splenomegaly
A National Study in Patients With Unexplained Splenomegaly
Primary Objective: To estimate the prevalence of Gaucher disease and of other etiologies, in patients of 15 years old or more presenting with unexplained splenomegaly after exclusion of first intention-diagnoses (e.g.
- Trial name
- SMS (NCT04430881)
- Where
- France
- Volunteers
- 506 people
- Sponsor
- Sanofi
Phenylketonuria
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
The primary purpose of this study is to assess the safety and tolerability of AG-181 in subjects with Phenylketonuria (PKU).
- Trial name
- NCT07241234
- Testing
- AG-181
- Where
- 5 sites in United States, Poland
- Volunteers
- 20 people
- Sponsor
- Agios Pharmaceuticals, Inc.
Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder
Neurologic Injuries in Adults With Urea Cycle Disorders
Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the most common types of UCD.
- Conditions
- Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
- Trial name
- NCT00472732
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Andrea Gropman
Adrenomyeloneuropathy, Adrenoleukodystrophy
Plasma Exchange With Albumin in AMN Patients
Adrenoleukodystrophy (X-ALD) is the most common genetic disorder of the brain white matter with an incidence of 1:14,700 births.
- Trial name
- NCT04303416
- Testing
- Albumin solution
- Where
- Spain
- Volunteers
- 5 people
- Sponsor
- Pujol, Aurora, M.D.
Esophageal Cancer
Outside the Cage (OTC) Robotic Esophagectomy
The goal of this clinical trial is to evaluate the feasibility and safety of a novel non-intercostal robotic approach for minimally invasive esophagectomy (OTC MIE) in the treatment of esophageal cancer.
- Trial name
- NCT06735638
- Testing
- OTC MIE Esophagectomy
- Where
- Canada
- Volunteers
- 31 people
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
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